A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262070



Internal ID22272530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47396545..47403143hg38UCSC Ensembl
Outerchr18:44922916..44929514hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386599
hg196599
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219466
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262070
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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